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Biomedical subjects

A García-Alix

Publications and source records attributed to A García-Alix.

26 records · Page 2Linked to original sources

Effects of immobilization on fetal bone development. A morphometric study in newborns with congenital neuromuscular diseases with intrauterine onset.

The effects of immobilization on fetal bone development were studied through post-mortem radiographs in 11 newborns with congenital neuromuscular diseases (CNMD) of intrauterine onset. Quantitative parameters were determined in the following bones: tibia, femur, humerus, radius, 3rd lumbar vertebra, and 5th rib. Thirty stillborns or newborns of similar gestational age and deceased from causes other than neuromuscular or related diseases were used as controls. No significant differences in bone lengths were observed between both groups. However, external diameters, cortex thicknesses, and cortical areas values were significantly lower in newborns with CNMD than in the control group. In newborns with CNMD, the medullary diameter of long bones showed good correlation with gestational age. However, this diameter was greater than that expected according to the reduced external diameter. These results suggest that intrauterine immobilization induces a decrease in mechanical usage of bone, mainly influencing bone modeling and probably bone remodeling. No changes were observed in longitudinal bone growth. Bones showed osteopenia and mechanical defects and were prone to fractures. In summary, reduced immobilization in utero produces bone osteoporosis of the fetus.

Bone Development↗

[Trisomy 5p: a report of 2 cases].

Authors report two patients from different families who present similar abnormalities caused by an "almost complete" trisomy of the short arm of chromosome 5 [case No. 1: 46, XY, der (20), t (5; 20) (p11;p13), mat; case No.2: 46, XY, dup (5p)]. Several family members of case No. 1 were balanced translocation carriers. Case No. 2 is probably due to de novo duplication. Clinical findings in our cases and those cited in the literature allow identification of certain main features characteristic of "almost complete" trisomy 5p: hypotonia, weak cry, mongoloid slant of eyes, epicanthus, depressed nasal bridge, auricular anomalies, bilateral cryptorchidism and, less frequently, macrocephaly, micrognathia and club feet.

Abnormalities, Multiple↗

Natural history of ventricular dilatation in preterm infants: prognostic significance.

Cerebral ultrasounds were prospectively performed in 100 infants weighing 1,500 gm or less in order to evaluate the prognostic significance of ventricular dilatations and their associated findings. There was no difference in the incidence of ventricular dilatation (24%) between patients with or without periventricular hemorrhage (PVH). Although patients with PVH developed ventricular dilatation significantly earlier than infants without PVH, no differences were observed in severity, location, head circumference growth, or intracranial pressure between the groups. Ventricular dilatation was statistically related to PVH grade III and PVH with parenchymal involvement; grades moderate-to-severe of periventricular echogenicity; and cystic periventricular leukomalacia (PVL). Ventricular dilatation persisted longer than 6 weeks in 61% of infants and had irregular margins in 62%. The latter were significantly related to cystic PVL. Seventy-seven of 100 infants examined were followed until 20 months corrected age. Ventricular dilatation mainly when persistent and with irregular margins was associated with handicaps. We conclude that ventricular dilatation is frequent in very low-birth weight infants. Furthermore, its occurrence may be independent of PVH. Persistent ventricular dilatation with irregular margins, even in its mild forms, suggests a parenchymal lesion and guarded prognosis.

Brain Damage, Chronic↗

[Ability of neonatal head circumference to predict long-term neurodevelopmental outcome].

AIM: We review the ability of head circumference (HC) at birth and head growth during the neonatal period to predict neurodevelopmental outcome, putting emphasis on new knowledge in this area. DEVELOPMENT: During infancy HC correlates closely with intracranial volume and constitutes an accurate predictor of cerebral volume. Both an abnormal head size at birth and an abnormal head growth during the neonatal period, can express brain damage or the presence of entities that involve varied degrees of neurological dysfunction in childhood. In general, the influence of head size or growth abnormalities on neurodevelopment is more related to the underlying etiology and/or the presence of structural diseases of the brain than with the HC alteration itself. HC evaluation is of particular interest in sick neonates, specially very low birth weight infants, regardless of whether they are normal or small for gestational age, and both during admission an during the first months of life. In these patients, HC catch-up within the first months of life represents a favorable neurodevelopmental prognostic factor. CONCLUSION: HC measuring and head growth evaluation constitute the most simple, inexpensive and quick available tools to assess the development of the central nervous system and identify neonates at risk of neurodevelopmental disorders.

Cephalometry↗

[Cerebellar hypoplasia in the newborn: association with respiratory control disorders and mental retardation].

Cerebellum malformations are frequently diagnosed since the advent of the neuroradiological studies (computed tomography, magnetic resonance imaging and ultrasonography). Cerebellar hypoplasia is found in association with a wide variety of neurologic and systemic disorders. Clinical picture in newborn may be different than in other periods of life. Two characteristics are interesting in neonatal period: their relation with abnormal respiratory control and mental retardation. The pathophysiology of cerebellar hypoplasia is uncertain, however experimental studies suggest than an abnormality of the Bergman glia may lead to the observed granulle cell layer deficiency in this malformation. It is tempting to speculate that a similar migrational abnormality in the cerebrum accounts for the intellectual impairment seen in some affected patients. Respiration is a complex neural function requiring precise coordination of numerous neural circuits. Cerebellar hypoplasia may be important in the pathogenetic mechanism of abnormal respiratory control due to cerebellar respiratory control disturbance. Also diaphragmatic dysfunction may occur in association with cerebellar atrophy. We report two newborns with cerebellar hypoplasia (vermis and hemispheres) associated with central respiratory and neurological dysfunction, and mental retardation.

Body Weight↗